A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13317982



Internal ID6793556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126547280..126551412hg38UCSC Ensembl
Innerchr8:126547301..126551391hg38UCSC Ensembl
Outerchr8:126547259..126551433hg38UCSC Ensembl
chr8:127559525..127563657hg19UCSC Ensembl
Innerchr8:127559546..127563636hg19UCSC Ensembl
Outerchr8:127559504..127563678hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg384133
hg194133
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618752
Supporting Variants
SamplesNA20887
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13317982
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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